Description, page 2

Intro to VHL


How do you get it?

von Hippel-Lindau Syndrome (VHL)

- “While about 80% of people with VHL inherited it from a parent approximately 20% of people with VHL are a result of a random genetic mutation before birth. It is not yet understood why this happens, but it underscores the importance of the need for careful differential diagnosis in all people, not just those in families known to be at risk for VHL…”

- “Every single human being has genetic mutations, however, most mutations are benign, which means that they do not cause disease or health problems…” -

- However, “approximately 87% of all people with a VHL mutation express at least one manifestation by the age of 60*.” Also see Table 1

- “VHL is different from other conditions in a few ways… it has no single primary symptom, it does not manifest exclusively in one organ … Appearance and severity are so variable that some people may have only relatively mild issues, while others may have much more serious ones. Due to its complex nature, VHL may not be recognized for many years. However, with careful monitoring, early detection, and appropriate treatment, the most harmful consequences of VHL can be greatly reduced, or in some cases even prevented entirely.”

- “Differential Diagnosis: Many of the tumors of VHL occur in the general population or in other diseases as well. The doctor has to sort out whether the tumor is sporadic or whether it is part of VHL or another disease. To answer this question, a number of tests may be required, which may include DNA testing…” [italics added]

A Treatment Goal

“The objective is to find tumors early, watch for signs that a tumor is becoming aggressive in its behavior, and to remove, or disable, the tumor before it invades other tissues. Benign tumors may also need treatment, or removal, if their growth will impact other areas by causing loss of function or pain. Since these tumors are inside the body, medical imaging techniques are needed to find and watch them. Not all VHL-related tumors require surgery [or other intervention] when they are found*. Research is ongoing to better predict when a tumor requires action…"

The VHL gene provides instructions for making a protein that functions as part of a complex (a group of proteins that work together) called the VCB-CUL2 complex ... Medline Plus



“There is nothing anyone can do, or not do, to control which gene is passed on; it is completely up to chance…” It’s called autosomal dominant inheritance

Belzutifan/Welireg VHLA's Patient Information Page ..."for the treatment of renal cell carcinoma (RCC), pancreatic neuroendocrine tumors (pNET) and hemangioblastomas (HB) in adult VHL patients." The medication is now available to be prescribed in the US. **** [2021]

Belzutifan/Welireg is also approved by Health Canada: 2022